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mental retardation, nonsyndromic autosomal recessive 6

Genetics: - autosomal recessive form associated with defects in GRIK2 gene Clinical manifestations: - mild to severe mental retardation - psychomotor development delay in early childhood - patients do not have neurologic problems, congenital malformations, or facial dysmorphism - body height, weight, & head circumference are normal in all patients Radiology: - magnetic resonance imaging (MRI) reveals no morphologic abnormalities

Database Correlations

OMIM 611092

References

  1. OMIM :accession 611092
  2. UniProt :accession Q13002